Thrombotic Events in Homozygotes with a Proven or Highly Probable Arg304Gln Factor VII Mutation (FVII Padua)1): Only Limited Replacement Therapy is Needed in Case of Surgery

医学 复合杂合度 杂合子优势 入射(几何) 突变 因子V 内科学 胃肠病学 凝血因子 外科 血栓形成 儿科 等位基因 遗传学 生物 物理 光学 基因
作者
Antonio Girolami,Elisabetta Cosi,Silvia Ferrari,Bruno Girolami,Maria Luigia Randi
出处
期刊:Cardiovascular and Hematological Disorders - Drug Targets [Bentham Science]
卷期号:19 (3): 233-238 被引量:1
标识
DOI:10.2174/1871529x19666190308114842
摘要

To investigate the prevalence of thrombotic events among patients with proven or highly probable homozygosis for the Arg304Gln (Factor VII Padua) defect or compound heterozygosis containing the Arg304Gln mutation.Homozygotes and compound heterozygotes proven by molecular studies to have the Arg304Gln mutation were gathered from personal files and from two PubMed searches. In addition, patients with probable homozygosis on the basis of clotting tests (discrepancies among Factor VII activity levels according to the tissue thromboplastin used) were also gathered.30 proven homozygotes and 17 probable ones were gathered together with 8 compound heterozygotes. In the latter use, the associated mutation was Cys135Arg (twice), Gly180Arg, Arg304Trp, Arg315Trp, His348Gln, Gly365Cys. The prevalence of venous thrombotic events was 16.6, 11.8 and 11.1 percent, respectively for the three groups of patients. Heterozygotes showed no thrombotic event. The difference for proven homozygotes was statistically significant, while for the other groups only a trend was present.proven homozygous or compound heterozygous patients with the Arg304Gln mutation showed a higher than expected incidence of thrombotic events. The same is true for probable cases gathered only on the basis of clotting tests. These patients, because of their frequent lack of bleeding and for their relatively high prevalence of thrombosis should probably receive only limited replacement therapy in case of surgical procedures.

科研通智能强力驱动
Strongly Powered by AbleSci AI
更新
大幅提高文件上传限制,最高150M (2024-4-1)

科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
小鱼爱吃肉完成签到,获得积分10
1秒前
念梦发布了新的文献求助10
2秒前
小牛完成签到,获得积分10
2秒前
4秒前
4秒前
师傅被妖怪抓走了完成签到,获得积分10
5秒前
祭天丶易木完成签到,获得积分10
8秒前
楚习习应助科研通管家采纳,获得10
8秒前
晓爽完成签到,获得积分10
8秒前
科研通AI2S应助科研通管家采纳,获得10
8秒前
monere应助科研通管家采纳,获得10
8秒前
科研通AI2S应助科研通管家采纳,获得10
8秒前
萧水白应助科研通管家采纳,获得10
8秒前
juziyaya应助科研通管家采纳,获得30
9秒前
顾矜应助科研通管家采纳,获得10
9秒前
艺术家完成签到,获得积分10
9秒前
Sun发布了新的文献求助10
9秒前
9秒前
weirdo发布了新的文献求助10
9秒前
11秒前
科研通AI2S应助weirdo采纳,获得10
15秒前
传奇3应助weirdo采纳,获得10
15秒前
苏南完成签到 ,获得积分10
15秒前
沫荔完成签到 ,获得积分10
15秒前
共享精神应助Sun采纳,获得10
18秒前
18秒前
19秒前
23秒前
24秒前
无奈以南完成签到 ,获得积分10
26秒前
星辰大海应助激动的雪冥采纳,获得10
26秒前
27秒前
27秒前
30秒前
33秒前
一树春风发布了新的文献求助10
34秒前
yuzhenzhong发布了新的文献求助10
38秒前
orixero应助段儿采纳,获得10
40秒前
43秒前
44秒前
高分求助中
The late Devonian Standard Conodont Zonation 2000
Nickel superalloy market size, share, growth, trends, and forecast 2023-2030 2000
The Lali Section: An Excellent Reference Section for Upper - Devonian in South China 1500
Very-high-order BVD Schemes Using β-variable THINC Method 870
Mantiden: Faszinierende Lauerjäger Faszinierende Lauerjäger 800
PraxisRatgeber: Mantiden: Faszinierende Lauerjäger 800
Fundamentals of Dispersed Multiphase Flows 500
热门求助领域 (近24小时)
化学 医学 生物 材料科学 工程类 有机化学 生物化学 物理 内科学 纳米技术 计算机科学 化学工程 复合材料 基因 遗传学 催化作用 物理化学 免疫学 量子力学 细胞生物学
热门帖子
关注 科研通微信公众号,转发送积分 3254080
求助须知:如何正确求助?哪些是违规求助? 2896409
关于积分的说明 8292562
捐赠科研通 2565288
什么是DOI,文献DOI怎么找? 1392945
科研通“疑难数据库(出版商)”最低求助积分说明 652418
邀请新用户注册赠送积分活动 629856